Overview of PAX gene family: analysis of human tissue-specific variant expression and involvement in human disease Brian ThompsonEmily A. DavidsonVasilis Vasiliou Review 29 July 2020 Pages: 381 - 400
Genetics and phenotypic heterogeneity of Dent disease: the dark side of the moon Lisa GianeselloDorella Del PreteLorenzo A. Calò Review Open access 29 August 2020 Pages: 401 - 421
Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis Morgan SandersJames M. J. LawlorJeremy W. Prokop Original Investigation 30 July 2020 Pages: 423 - 439
The shared genetic architecture of schizophrenia, bipolar disorder and lifespan Gerard MuntanéXavier FarréElisabet Vilella Original Investigation 09 August 2020 Pages: 441 - 455
Systematic identification of genetic systems associated with phenotypes in patients with rare genomic copy number variations F. M. JabatoPedro SeoaneJuan A. G. Ranea Original Investigation 10 August 2020 Pages: 457 - 475
Resolving misalignment interference for NGS-based clinical diagnostics Che-yu LeeHai-Yun YenHanlin Gao Original Investigation 11 September 2020 Pages: 477 - 492
Beyond medically actionable results: an analytical pipeline for decreasing the burden of returning all clinically significant secondary findings Emma RebleMariana Gutierrez SalazarYvonne Bombard Original Investigation 06 September 2020 Pages: 493 - 504
Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population Prashantha HebbarJehad Ahmed AbubakerThangavel Alphonse Thanaraj Original Investigation Open access 09 September 2020 Pages: 505 - 528
Genetic analysis of endometriosis and depression identifies shared loci and implicates causal links with gastric mucosa abnormality Emmanuel O. AdewuyiDivya MehtaDale R. Nyholt Original Investigation 21 September 2020 Pages: 529 - 552
A study of normal copy number variations in Israeli population Idit MayaPola Smirin-YosefMali Salmon-Divon Original Investigation 27 September 2020 Pages: 553 - 563